I31T (p.Ile31Thr) variant of KCNH2 (hERG)
I31T (p.Ile31Thr) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes experimental measurements and structural context.
I31T (p.Ile31Thr) variant details
- p.Ile31Thr
- rs199472833
- ClinGen CA008995
- ClinVar RCV000058274
- ClinVar RCV000181922
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- CADD 31.00
- PolyPhen-2 0.23
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0